A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5884



Internal ID15204052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:103321719..103357594hg38UCSC Ensembl
Outerchr7:102962166..102998041hg19UCSC Ensembl
Outerchr7:102749402..102785277hg18UCSC Ensembl
Outerchr7:102556117..102591992hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg385505
hg195505
hg185505
hg175505
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv671, nssv2772
SamplesNA18555, NA19240
Known GenesDNAJC2, PSMC2, SLC26A5
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv5884
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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